Canonical Allele Identifier: CA2840679889

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570316_48570322del , CM000665.2:g.48570316_48570322del	GRCh38
NC_000003.11:g.48607749_48607755del , CM000665.1:g.48607749_48607755del	GRCh37
NC_000003.10:g.48582753_48582759del	NCBI36
NG_007065.1:g.29931_29937del , LRG_286:g.29931_29937del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7393_7399del MANE Select	ENSP00000506558.1:p.Val2465CysfsTer?
ENST00000328333.12:c.7393_7399del	ENSP00000332371.8:p.Val2465CysfsTer?
ENST00000422991.1:c.388_394del	ENSP00000391608.1:p.Val130CysfsTer?
ENST00000459756.5:n.120_126del
ENST00000467985.1:n.143_149del
ENST00000487017.5:n.4032_4038del
NM_000094.3:c.7393_7399del , LRG_286t1:c.7393_7399del	NP_000085.1:p.Val2465CysfsTer?
XM_011533336.1:c.7420_7426del	XP_011531638.1:p.Val2474CysfsTer?
XM_011533337.1:c.7393_7399del	XP_011531639.1:p.Val2465CysfsTer?
XM_011533338.1:c.7408-144_7408-138del	XP_011531640.1:n.7408-144_7408-138del
XM_011533339.1:c.7420_7426del	XP_011531641.1:p.Val2474CysfsTer?
XM_011533340.1:c.7408-70_7408-64del	XP_011531642.1:n.7408-70_7408-64del
XM_011533341.1:c.7382-70_7382-64del	XP_011531643.1:n.7382-70_7382-64del
XM_011533342.1:c.7382-144_7382-138del	XP_011531644.1:n.7382-144_7382-138del
XR_940369.1:n.7456_7462del
XR_940370.1:n.7456_7462del
XR_940371.1:n.7456_7462del
XR_940372.1:n.7430_7436del
XM_017005688.1:c.7381-144_7381-138del	XP_016861177.1:n.7381-144_7381-138del
XM_017005689.1:c.7393_7399del	XP_016861178.1:p.Val2465CysfsTer?
XM_017005690.1:c.7381-70_7381-64del	XP_016861179.1:n.7381-70_7381-64del
XM_017005691.1:c.7355-70_7355-64del	XP_016861180.1:n.7355-70_7355-64del
XM_017005692.1:c.7355-144_7355-138del	XP_016861181.1:n.7355-144_7355-138del
XR_001740003.1:n.7429_7435del
XR_001740004.1:n.7429_7435del
XR_001740005.1:n.7429_7435del
XR_001740006.1:n.7403_7409del
NM_000094.4:c.7393_7399del MANE Select	NP_000085.1:p.Val2465CysfsTer?